Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.280 | X | 67686064 | missense variant | G/A | snv | 0.810 | 1.000 | 21 | 1992 | 2004 | |||||
|
4 | 0.851 | 0.200 | X | 67721909 | missense variant | C/G | snv | 1.4E-03 | 1.4E-03 | 0.810 | 1.000 | 21 | 1992 | 2010 | |||
|
2 | 0.925 | 0.160 | X | 67717535 | missense variant | G/A;T | snv | 0.810 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.160 | X | 67545150 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
5 | 0.827 | 0.240 | X | 67722976 | missense variant | G/A;T | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
3 | 0.882 | 0.200 | X | 67717595 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67721937 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
5 | 0.827 | 0.240 | X | 67686067 | missense variant | G/A | snv | 0.710 | 1.000 | 21 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.160 | X | 67717526 | missense variant | C/G | snv | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||
|
5 | 0.827 | 0.240 | X | 67722899 | missense variant | G/A;T | snv | 0.710 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.160 | X | 67717552 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67721838 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67723688 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67643387 | missense variant | T/A | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67721857 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1992 | 2004 | ||||
|
2 | 0.925 | 0.160 | X | 67711653 | missense variant | C/A;T | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
3 | 0.925 | 0.160 | X | 67643283 | missense variant | G/A;T | snv | 1.8E-04 | 0.700 | 1.000 | 20 | 1992 | 2004 | ||||
|
3 | 0.882 | 0.200 | X | 67723690 | missense variant | C/T | snv | 1.1E-05 | 9.6E-06 | 0.700 | 1.000 | 20 | 1992 | 2004 | |||
|
1 | 1.000 | 0.160 | X | 67643344 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67686088 | missense variant | G/A | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1992 | 2004 | ||||
|
3 | 0.882 | 0.200 | X | 67723746 | missense variant | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1992 | 2004 | ||||
|
1 | 1.000 | 0.160 | X | 67721934 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | X | 67722898 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 67545667 | stop gained | T/G | snv | 0.700 | 0 |